I. Boccaccio

发表

Lamin A Truncation in Hutchinson-Gilford Progeria

Pierre Cau, Arnold Munnich, Colin L. Stewart, 2003, Science.

Founder Effect and Estimation of the Age of the c.892C>T (p.Arg298Cys) Mutation in LMNA Associated to Charcot‐Marie‐Tooth Subtype CMT2B1 in Families from North Western Africa

E. Génin, N. Lévy, D. Grid, 2008, Annals of human genetics.

Disruption of the mouse Necdin gene results in hypothalamic and behavioral alterations reminiscent of the human Prader-Willi syndrome.

D. Abrous, M. Le Moal, M. Moal, 2000, Human molecular genetics.

Assignment of a new congenital fibrosis of extraocular muscles type 3 (CFEOM3) locus, FEOM4, based on a balanced translocation t(2;13) (q37.3;q12.11) and identification of candidate genes

N. Philip, M. Mattei, J. Pouget, 2005, Journal of Medical Genetics.

An Atypical Mitogen-activated Protein Kinase (MAPK) Homologue Expressed in Gametocytes of the Human Malaria ParasitePlasmodium falciparum

D. Parzy, C. Doerig, P. Alano, 1999, The Journal of Biological Chemistry.

The human MAGEL2 gene and its mouse homologue are paternally expressed and mapped to the Prader-Willi region.

F. Watrin, M. Lalande, F. Muscatelli, 1999, Human molecular genetics.

Loss of ZMPSTE24 (FACE-1) causes autosomal recessive restrictive dermopathy and accumulation of Lamin A precursors.

C. López-Otín, R. Hennekam, A. Wagner, 2005, Human molecular genetics.

Lamin A and ZMPSTE24 (FACE-1) defects cause nuclear disorganization and identify restrictive dermopathy as a lethal neonatal laminopathy.

R. Hennekam, A. Verloes, N. Lévy, 2004, Human molecular genetics.

Homozygosity mapping of autosomal recessive demyelinating Charcot-Marie-Tooth neuropathy (CMT4H) to a novel locus on chromosome 12p11.21-q13.11

E. Chouery, A. Mégarbané, N. Lévy, 2005, Journal of Medical Genetics.

TO JMG Homozygosity mapping of autosomal recessive demyelinating

E. Chouery, A. Mégarbané, T. Maisonobe, 2005 .

Phenotypic and genetic exploration of severe demyelinating and secondary axonal neuropathies resulting from GDAP1 nonsense and splicing mutations

A. Mégarbané, N. Lévy, J. Vallat, 2003, Journal of medical genetics.

Mutations in FGD 4 encoding the Rho GDP / GTP Exchange Factor FRABIN cause autosomal recessive Charcot-Marie-Tooth type 4 H

E. Chouery, A. Mégarbané, N. Lévy, 2008 .

G.O.3 Mutations in FGD4 encoding the Rho GDP/GTP exchange factor FRABIN cause autosomal recessive Charcot-Marie-Tooth type 4H

E. Chouery, A. Mégarbané, D. Grid, 2007, Neuromuscular Disorders.

The H89 cAMP-dependent protein kinase inhibitor blocks Plasmodium falciparum development in infected erythrocytes.

G. Langsley, D. Parzy, I. Boccaccio, 2001, European journal of biochemistry.

Fragile X syndrome in an extended family with special reference to an affected male with Klinefelter syndrome.

N. Philip, I. Boccaccio, C. Piquet, 1991, American journal of medical genetics.

Unexpected Inheritance of the (CGG)n Trinucleotide Expansion in a Fragile X Syndrome Family

V. Biancalana, A. Moncla, I. Boccaccio, 1996, European journal of human genetics : EJHG.